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Comment
. 2020 Dec;7(12):2538-2540.
doi: 10.1002/acn3.51193. Epub 2020 Oct 27.

Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

Mathieu Cerino  1   2   3 , Marc Bartoli  1 , Florence Riccardi  1   2 , Brigitte Le Goanvic  2 , Véronique Blanck  2 , Alexandra Salvi  1 , Nicolas Lévy  1   2   4 , Martin Krahn  1   2 , Ariane Choumert  5
Affiliations
Comment

Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

Mathieu Cerino et al. Ann Clin Transl Neurol. 2020 Dec.
No abstract available

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Conflict of interest statement

The authors have no conflict of interest to disclose.

Figures

Figure 1
Figure 1
(A) Pedigree and familial segregation analysis of the c.598_612del15 [p.(Phe200_Leu204del)] CAPN3 variant. (+) indicates nonmutated allele and (‐) indicates mutated allele for the c.598_612del15 CAPN3 variant; (?) denotes individuals with unknown clinical status and/or ongoing clinical exploration; Black color indicates clinically symptomatic patients; Gray color indicates subjects with isolated hyperCKaemia. (B) Muscle imaging findings for the index case (patient II.2) harboring the c.598_612del15 [p.(Phe200_Leu204del)] CAPN3 variant. MRI shows fatty replacement and atrophy of the posterior thigh compartment of the soleus and medial gastrocnemius muscles (white arrows).
See this image and copyright information in PMC

Comment in

Comment on

  • Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
    Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander JJ, Askree SH, Whitt Z, Bean L, Collins C, Khadilkar S, Gaitonde P, Dastur R, Wicklund M, Mozaffar T, Harms M, Rufibach L, Mittal P, Hegde M. Nallamilli BRR, et al. Ann Clin Transl Neurol. 2018 Dec 1;5(12):1574-1587. doi: 10.1002/acn3.649. eCollection 2018 Dec. Ann Clin Transl Neurol. 2018. PMID: 30564623 Free PMC article.

References

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